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Ciliopathies

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https://www.readbyqxmd.com/read/28096262/cilia-and-obesity
#1
Christian Vaisse, Jeremy F Reiter, Nicolas F Berbari
The ciliopathies Bardet-Biedl syndrome and Alström syndrome cause obesity. How ciliary dysfunction leads to obesity has remained mysterious, partly because of a lack of understanding of the physiological roles of primary cilia in the organs and pathways involved in the regulation of metabolism and energy homeostasis. Historically, the study of rare monogenetic disorders that present with obesity has informed our molecular understanding of the mechanisms involved in nonsyndromic forms of obesity. Here, we present a framework, based on genetic studies in mice and humans, of the molecular and cellular pathways underlying long-term regulation of energy homeostasis...
January 17, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28095645/what-we-can-learn-from-a-tadpole-about-ciliopathies-and-airway-diseases-using-systems-biology-in-xenopus-to-study-cilia-and-mucociliary-epithelia
#2
REVIEW
Peter Walentek, Ian K Quigley
Over the past years, the Xenopus embryo has emerged as an incredibly useful model organism for studying the formation and function of cilia and ciliated epithelia in vivo. This has led to a variety of findings elucidating the molecular mechanisms of ciliated cell specification, basal body biogenesis, cilia assembly and ciliary motility. These findings also revealed the deep functional conservation of signaling, transcriptional, post-transcriptional and protein networks employed in the formation and function of vertebrate ciliated cells...
January 17, 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/28094344/estrogen-related-receptor-is-required-for-the-testicular-development-and-for-the-normal-sperm-axoneme-mitochondrial-derivatives-in-drosophila-males
#3
Snigdha Misra, Anuj Kumar Pandey, Snigdha Gupta, Ajay Kumar, Priyanka Khanna, Jai Shankar, Kristipati Ravi Ram
Estrogen related receptors (ERRs), categorized as orphan nuclear receptors, are critical for energy homeostasis and somatic development. However, significance of ERRs in the development of reproductive organs/organelles/cells remain poorly understood, albeit their homology to estrogen receptors. In this context, here, we show that knockdown of ERR in the testes leads to improperly developed testes with mis-regulation of genes (aly, mia, bruce, bam, bgcn, fzo and eya) involved in spermatogenesis, resulting in reduced male fertility...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28089251/mutations-in-mapkbp1-cause-juvenile-or-late-onset-cilia-independent-nephronophthisis
#4
Maxence S Macia, Jan Halbritter, Marion Delous, Cecilie Bredrup, Arthur Gutter, Emilie Filhol, Anne E C Mellgren, Sabine Leh, Albane Bizet, Daniela A Braun, Heon Y Gee, Flora Silbermann, Charline Henry, Pauline Krug, Christine Bole-Feysot, Patrick Nitschké, Dominique Joly, Philippe Nicoud, André Paget, Heidi Haugland, Damien Brackmann, Nayir Ahmet, Richard Sandford, Nurcan Cengiz, Per M Knappskog, Helge Boman, Bolan Linghu, Fan Yang, Edward J Oakeley, Pierre Saint Mézard, Andreas W Sailer, Stefan Johansson, Eyvind Rødahl, Sophie Saunier, Friedhelm Hildebrandt, Alexandre Benmerah
Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutations in a candidate gene in eight individuals from five families presenting late-onset NPH with massive renal fibrosis. This gene encodes MAPKBP1, a poorly characterized scaffolding protein for JNK signaling. Immunofluorescence analyses showed that MAPKBP1 is not present at the primary cilium and that fibroblasts from affected individuals did not display ciliogenesis defects, indicating that MAPKBP1 may represent a new family of NPHP not involved in cilia-associated functions...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28087721/joubert-syndrome-neuroimaging-findings-in-110-patients-in-correlation-with-cognitive-function-and-genetic-cause
#5
Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
BACKGROUND: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function. METHODS: Brain MRI of 110 patients with Joubert syndrome was included in this study. A comprehensive evaluation of brain MRI studies for infratentorial and supratentorial morphological abnormalities was performed...
January 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28069795/intraflagellar-transport-88-ift88-is-crucial-for-craniofacial-development-in-mice-and-is-a-candidate-gene-for-human-cleft-lip-and-palate
#6
Hua Tian, Jifan Feng, Jingyuan Li, Thach-Vu Ho, Yuan Yuan, Yang Liu, Frederick Brindopke, Jane C Figueiredo, William Magee, Pedro A Sanchez-Lara, Yang Chai
Ciliopathies are pleiotropic human diseases resulting from defects of the primary cilium, and these patients often have cleft lip and palate. IFT88 is required for the assembly and function of the primary cilia, which mediate the activity of key developmental signaling pathways. Through whole exome sequencing of a family of three affected siblings with isolated cleft lip and palate, we discovered that they share a novel missense mutation in IFT88 (c.915G>C, p.E305D), suggesting this gene should be considered a candidate for isolated orofacial clefting...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28069794/brain-ventriculomegaly-in-down-syndrome-mice-is-caused-by-pcp4-dose-dependent-cilia-dysfunction
#7
Matthieu Raveau, Takashi Nakahari, Sachie Asada, Keiichi Ishihara, Kenji Amano, Atsushi Shimohata, Haruhiko Sago, Kazuhiro Yamakawa
Down syndrome is a leading cause of congenital intellectual disability caused by an additional copy of the chromosome 21. Patients display physiological and morphological changes affecting the brain and its function. Previously we showed that Ts1Cje and Ts2Cje, Down syndrome mouse models carrying overlapping trisomic segments of different length, show similar ventriculomegaly and neurogenesis dysfunction leading to the hypothesis of a cause-consequence relationship between these phenotypes. However, we here discovered that Ts1Rhr Down syndrome model, carrying an even shorter trisomic segment, was sufficient to trigger ventricular enlargement and ependymal cilia beating deficiency without affecting neurogenesis...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28062565/the-biology-of-ciliary-dynamics
#8
Kuo-Shun Hsu, Jen-Zen Chuang, Ching-Hwa Sung
The cilium is an evolutionally conserved apical membrane protrusion that senses and transduces diverse signals to regulate a wide range of cellular activities. The cilium is dynamic in length, structure, and protein composition. Dysregulation of ciliary dynamics has been linked with ciliopathies and other human diseases. The cilium undergoes cell-cycle-dependent assembly and disassembly, with ciliary resorption linked with G1-S transition and cell-fate choice. In the resting cell, the cilium remains sensitive to environmental cues for remodeling during tissue homeostasis and repair...
January 6, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28052552/celsr2-encoding-a-planar-cell-polarity-protein-is-a-putative-gene-in-joubert-syndrome-with-cortical-heterotopia-microophthalmia-and-growth-hormone-deficiency
#9
Thierry Vilboux, May Christine V Malicdan, Joseph C Roney, Andrew R Cullinane, Joshi Stephen, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Peter J Steinbach, William A Gahl, Meral Gunay-Aygun
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity...
January 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28033362/craniofacial-ciliopathies-and-the-interpretation-of-hedgehog-signal-transduction
#10
Karen J Liu
No abstract text is available yet for this article.
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/28029746/respiratory-manifestations-in-38-patients-with-alstr%C3%A3-m-syndrome
#11
Caroline Boerwinkle, Jan D Marshall, Joy Bryant, William A Gahl, Kenneth N Olivier, Meral Gunay-Aygun
OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease...
December 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28027321/elevated-fibroblast-growth-factor-signaling-is-critical-for-the-pathogenesis-of-the-dwarfism-in-evc2-limbin-mutant-mice
#12
Honghao Zhang, Nobuhiro Kamiya, Takehito Tsuji, Haruko Takeda, Greg Scott, Sudha Rajderkar, Manas K Ray, Yoshiyuki Mochida, Benjamin Allen, Veronique Lefebvre, Irene H Hung, David M Ornitz, Tetsuo Kunieda, Yuji Mishina
Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still little known about the pathophysiological mechanisms underlying the skeletal dysplasia features of EvC patients, and in particular why limb development is affected, but not other aspects of organogenesis that also require Hedgehog signaling...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/28017521/the-ciliopathy-associated-cep104-protein-interacts-with-tubulin-and-nek1-kinase
#13
Caezar Al-Jassar, Antonina Andreeva, Deepak D Barnabas, Stephen H McLaughlin, Christopher M Johnson, Minmin Yu, Mark van Breugel
Cilia are thin cell projections with essential roles in cell motility, fluid movement, sensing, and signaling. They are templated from centrioles that dock against the plasma membrane and subsequently extend their peripheral microtubule array. The molecular mechanisms underpinning cilia assembly are incompletely understood. Cep104 is a key factor involved in cilia formation and length regulation that rides on the ends of elongating and shrinking cilia. It is mutated in Joubert syndrome, a genetically heterogeneous ciliopathy...
January 3, 2017: Structure
https://www.readbyqxmd.com/read/28001274/language-behavior-and-neurodevelopment-in-joubert-syndrome-a-case-report
#14
Dionísia Aparecida Cusin Lamônica, Camila da Costa Ribeiro, Antonio Richieri-Costa, Célia Maria Giacheti
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS)...
November 2016: CoDAS
https://www.readbyqxmd.com/read/27998989/inpp5e-regulates-phosphoinositide-dependent-cilia-transition-zone-function
#15
Jennifer M Dyson, Sarah E Conduit, Sandra J Feeney, Sandra Hakim, Tia DiTommaso, Alex J Fulcher, Absorn Sriratana, Georg Ramm, Kristy A Horan, Rajendra Gurung, Carol Wicking, Ian Smyth, Christina A Mitchell
Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is mutated in JBTS. Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly; however, the underlying defects in cilia signaling and the function of INPP5E at cilia are still emerging. We report Inpp5e(-/-) embryos exhibit aberrant Hedgehog-dependent patterning with reduced Hedgehog signaling. Using mouse genetics, we show increasing Hedgehog signaling via Smoothened M2 expression rescues some Inpp5e(-/-) ciliopathy phenotypes and "normalizes" Hedgehog signaling...
January 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/27957444/a-novel-mutation-in-the-ofd1-gene-in-a-family-with-oral-facial-digital-syndrome-type-1-a-case-report
#16
Masoud Dehghan Tezerjani, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Barry A Chioza, Shiva Zamaninejad, Seyed Mehdi Kalantar, Mahmoud Nori-Shadkam, Hamidreza Ghadimi, Emma L Baple, Andrew H Crosby, Mohammadreza Dehghani
Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far. Type 1 which is now considered to be a ciliopathy accounts for the majority of cases. It is transmitted in an X-linked dominant pattern and caused by mutations in OFD1 gene, which can result in embryonic male lethality...
October 2016: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/27940518/radial-spokes-a-snapshot-of-the-motility-regulation-assembly-and-evolution-of-cilia-and-flagella
#17
Xiaoyan Zhu, Yi Liu, Pinfen Yang
Propulsive forces generated by cilia and flagella are used in events that are critical for the thriving of diverse eukaryotic organisms in their environments. Despite distinctive strokes and regulations, the majority of them adopt the 9+2 axoneme that is believed to exist in the last eukaryotic common ancestor. Only a few outliers have opted for a simpler format that forsakes the signature radial spokes and the central pair apparatus, although both are unnecessary for force generation or rhythmicity. Extensive evidence has shown that they operate as an integral system for motility control...
December 9, 2016: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/27930654/whole-organism-developmental-expression-profiling-identifies-rab-28-as-a-novel-ciliary-gtpase-associated-with-the-bbsome-and-intraflagellar-transport
#18
Victor L Jensen, Stephen Carter, Anna A W M Sanders, Chunmei Li, Julie Kennedy, Tiffany A Timbers, Jerry Cai, Noemie Scheidel, Breandán N Kennedy, Ryan D Morin, Michel R Leroux, Oliver E Blacque
Primary cilia are specialised sensory and developmental signalling devices extending from the surface of most eukaryotic cells. Defects in these organelles cause inherited human disorders (ciliopathies) such as retinitis pigmentosa and Bardet-Biedl syndrome (BBS), frequently affecting many physiological and developmental processes across multiple organs. Cilium formation, maintenance and function depend on intracellular transport systems such as intraflagellar transport (IFT), which is driven by kinesin-2 and IFT-dynein motors and regulated by the Bardet-Biedl syndrome (BBS) cargo-adaptor protein complex, or BBSome...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27925158/mutations-in-dync2h1-the-cytoplasmic-dynein-2-heavy-chain-1-motor-protein-gene-cause-short-rib-polydactyly-type-i-saldino-noonan-type
#19
Nora Badiner, Stephanie Paige Taylor, Kimberly Forlenza, Ralph S Lachman, Michael Bamshad, Deborah Nickerson, Daniel H Cohn, Deborah Krakow
The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I-IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among all forms of SRP include short horizontal ribs, short limbs and polydactyly. The SRP type I phenotype is characterized by a very small thorax, extreme micromelia, very short, poorly mineralized long bones, and multiple organ system anomalies...
December 7, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27913686/micrognathia-in-mouse-models-of-ciliopathies
#20
REVIEW
Hadeel Adel Al-Lami, William B Barrell, Karen J Liu
Defects in the development of the mandible can lead to micrognathia, or small jaw, which manifests in ciliopathic conditions, such as orofaciodigital syndrome, Meckel-Gruber syndrome, and Bardet-Biedl syndrome. Although micrognathia occurs frequently in human and mouse ciliopathies, it has been difficult to pinpoint the underlying cellular causes. In this mini-review, we shed light on the tissue-specific contributions to ciliary dysfunction in the development of the mandible. First, we outline the steps involved in setting up the jaw primordium and subsequent steps in the outgrowth of the mandibular skeleton...
December 15, 2016: Biochemical Society Transactions
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